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Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

In recent years, many software packages for identifying structural variants (SVs) using whole-genome sequencing data have been released. When published, a new method is commonly compared with those already available, but this tends to be selective and incomplete. The lack of comprehensive benchmarki...

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Detalles Bibliográficos
Autores principales: Cameron, Daniel L., Di Stefano, Leon, Papenfuss, Anthony T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642177/
https://www.ncbi.nlm.nih.gov/pubmed/31324872
http://dx.doi.org/10.1038/s41467-019-11146-4